Gene

HNF4A

hepatocyte nuclear factor 4 alpha

Cytogenetic location: 20q13.12
Coordinates: Chromosome 20: 44,355,699–44,432,845 (GRCh38)
Exons: 10 exons across 77.1 kb
Protein: 452 amino acids
Inheritance: Autosomal dominant
Also known as: NR2A1, HNF4
Previous symbols: TCF14, MODY, MODY1
MANE Select transcript: ENST00000316673.9NM_175914.5
Locus type: gene with protein product

Very high
Confident
Low
Very low

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

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Curated reports relevant to this gene

Diabetes Mellitus
- A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.
  - ClinGen rates the link definitive
  - 6 GenCC submitters rate it definitive or strong
  What knowing changes
  Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems
Fanconi Renotubular Syndrome and Renal Glucosuria
- Inherited Fanconi Renotubular Syndrome
  A group of inherited proximal tubule disorders, caused by genes such as GATM, EHHADH and HNF4A, in which many substances are lost in the urine, which can affect bones and kidney function.
  - 3 GenCC submitters rate it definitive or strong
  What knowing changes
  Knowing allows monitoring of kidney function and bone health and replacement of lost minerals where needed.
Maturity-Onset Diabetes Of The Young
- Autosomal dominant
  MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
  - 5 GenCC submitters rate it definitive or strong
  What knowing changes
  GCK-MODY: no treatment needed; HNF1A/HNF4A-MODY: low-dose sulfonylureas; HNF1B-MODY: insulin + renal monitoring; T2D polygenic: lifestyle modification, metformin, GLP-1 agonists, SGLT2 inhibitors based on comorbidity profile

Inheritance

Autosomal dominant: One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How a genome test reads HNF4A

118

positions in HNF4A where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 77.1 kb of HNF4A, introns included, not only the 4.6 kb of exons.

Variants with a page (104)

The HNF4A variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

Variant	HGVS c.	Exon or intron	Position (GRCh38)	ClinVar classification	Review status
A52Cfs*5	c.152dup	Exon 2	44,406,158	Pathogenic	3 stars out of 4 reviewed by expert panel
A107D	c.320C>A	Exon 4	44,413,694	Pathogenic	3 stars out of 4 reviewed by expert panel
A185T	c.553G>A	Exon 5	44,414,633	Likely pathogenic	3 stars out of 4 reviewed by expert panel
c.-12G>A		Exon 1	44,355,793	Likely pathogenic	3 stars out of 4 reviewed by expert panel
c.1A>G		Exon 1	44,355,805	Pathogenic	3 stars out of 4 reviewed by expert panel
c.1A>T		Exon 1	44,355,805	Likely pathogenic	3 stars out of 4 reviewed by expert panel
c.1del		Exon 1	44,355,804	Likely pathogenic	3 stars out of 4 reviewed by expert panel
c.2T>A		Exon 1	44,355,806	Likely pathogenic	3 stars out of 4 reviewed by expert panel
c.2T>C		Exon 1	44,355,806	Likely pathogenic	3 stars out of 4 reviewed by expert panel
c.3G>A		Exon 1	44,355,807	Likely pathogenic	3 stars out of 4 reviewed by expert panel

See all 104 HNF4A variants →

Traits linked to HNF4A

The Human Phenotype Ontology lists these as features of the rare conditions HNF4A can cause. Each trait's page lists the other genes linked to it.

Laboratory abnormality

Show 22 more traits

Abnormality of the nervous system

Abnormality of the digestive system

Growth abnormality

Abnormality of the genitourinary system

Abnormality of the integument

Abnormality of the musculoskeletal system

Abnormality of the endocrine system

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). HNF4A gene: hepatocyte nuclear factor 4 alpha. Retrieved 17 October 2026, from https://dantelabs.com/genes/hnf4a

Vancouver

Dante Labs. HNF4A gene: hepatocyte nuclear factor 4 alpha [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hnf4a

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